Genomics England

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

There is a more recent signed-off version of this panel

Signed off date: 11 Feb 2020

Panel types: GMS Rare Disease, Component Of Super Panel, GMS signed-off

14 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACVR2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CFAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GDF1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SOX11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A